Mutations at homologous positions to ABCA3 p.Pro248
Alignment: ABCA_full, Alignment of full length ABCA proteins, 2016-02-18 11:17:15Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCA3 |
p.Pro248Leu
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA3 |
p.Phe245Leu
p.Pro246Leu
p.Asp253His
p.Asp253Tyr
|
N
D
?
D
D
?
D
D
?
D
D
?
|
| ABCA1 |
p.Cys626Ser
|
D
D
?
|
| ABCA4 |
p.Gln635Lys
p.Gln635*
p.Gln636His
p.Gln636*
p.Gln636*
p.Tyr639*
p.Cys641Ser
p.Phe642Ile
p.Phe642Leu
p.Val643Gly
p.Val643Met
p.Asp645Asn
|
D
D
-
-
D
D
-
-
?
-
-
?
-
-
N
D
N
D
?
N
D
?
D
D
D
N
N
D
D
|
The alignment around the queried position:
ABCA3 209
E
F
A
V
H
A
V
D
R
A
I
M
E
Y
H
A
D
A
A
T
R
Q
L
F
Q
R
L
T
V
T
I
K
R
Y
P
F
I
A
P
F
L
V
A
I
Q
Y
Q
L
L
L
L
L
L
S
F
T
Y
T
A
L
T
I
A
A
V
V
Q
E
K
E
288
ABCA1 591
G
G
Y
L
D
V
V
E
Q
A
I
I
R
V
L
T
G
T
E
K
K
-
-
-
-
-
T
V
Y
M
Q
Q
M
P
Y
P
Y
V
D
D
I
F
L
R
V
S
S
P
L
F
M
T
L
A
W
I
Y
S
V
A
V
I
I
K
G
V
Y
E
K
E
665
ABCA2 658
G
-
F
V
W
I
Q
D
M
M
E
R
A
I
I
D
T
F
V
G
H
D
V
V
E
-
-
-
-
P
G
S
Y
V
Q
M
F
P
Y
P
C
Y
T
R
D
D
F
L
F
V
I
E
H
M
M
P
L
C
M
V
I
S
W
V
Y
S
V
A
M
T
I
Q
H
I
V
A
E
K
E
H
732
ABCA4 606
A
Y
L
Q
D
M
Q
I
T
R
S
V
Q
A
A
P
-
-
-
-
-
V
G
I
Y
L
M
P
P
D
S
F
M
I
I
L
N
C
P
I
F
V
L
A
I
Y
S
V
S
M
T
V
K
S
I
L
E
E
L
680
ABCA5 173
-
F
T
V
L
Q
A
S
I
D
A
A
I
I
Q
L
K
T
N
V
S
L
W
K
-
-
-
-
E
L
E
S
T
K
A
V
I
M
G
E
T
A
V
V
E
I
D
T
F
P
R
G
V
I
L
I
Y
L
V
I
A
F
S
P
F
G
Y
F
L
A
I
H
I
V
A
E
K
E
K
K
247
ABCA6 175
-
F
V
A
L
Q
T
A
I
N
T
A
I
I
E
I
T
T
N
H
P
V
M
E
-
-
-
-
E
L
M
S
V
T
A
I
T
M
K
T
L
P
F
I
T
K
N
L
L
H
N
E
M
F
I
L
F
F
L
L
H
F
S
P
L
V
Y
F
I
S
L
N
V
T
K
E
R
-
K
K
248
ABCA7 501
G
G
F
V
Y
L
Q
D
L
V
E
A
A
V
R
V
L
S
G
A
N
P
-
-
-
-
-
A
G
L
Y
L
Q
Q
M
P
Y
P
C
Y
V
D
D
V
F
L
R
V
L
S
R
S
L
P
L
F
L
T
L
A
W
I
Y
S
V
T
L
T
V
K
A
V
V
R
E
K
T
575
ABCA8 177
-
F
V
A
L
Q
A
A
I
N
A
A
I
I
E
I
T
T
N
H
S
V
M
E
-
-
-
-
E
L
M
S
V
T
G
K
N
M
K
M
H
S
F
I
G
Q
S
G
V
I
T
D
L
Y
L
F
S
C
I
I
S
F
S
S
F
I
Y
Y
A
S
V
N
V
T
R
E
R
-
K
R
250
ABCA9 178
-
F
V
A
F
Q
A
A
I
N
A
A
I
I
E
I
A
T
N
H
S
V
M
E
-
-
-
-
Q
L
M
S
V
T
G
V
H
M
K
I
L
P
F
V
A
Q
G
G
V
A
T
D
F
F
I
F
F
C
I
I
S
F
S
T
F
I
Y
Y
V
S
V
N
V
T
Q
E
R
-
Q
Y
251
ABCA10 88
-
F
V
A
F
Q
A
A
I
N
A
A
I
I
E
V
T
T
N
H
S
V
M
E
-
-
-
-
E
L
T
S
V
I
G
I
N
M
K
I
P
P
F
I
S
K
G
E
I
M
N
E
W
F
H
F
T
C
L
V
S
F
S
S
F
I
Y
F
A
S
L
N
V
A
R
E
R
-
G
K
161
ABCA12 1020
A
-
F
I
Y
L
Q
D
S
I
E
R
A
I
I
E
L
Q
T
G
R
N
S
Q
E
-
-
-
-
I
A
V
Q
V
Q
A
I
P
Y
P
C
F
M
K
D
N
F
L
T
S
V
S
Y
S
L
P
I
V
L
M
V
A
W
V
V
F
I
A
A
F
V
K
K
L
E
K
D
L
1094
ABCA13 3523
V
-
F
A
P
L
Q
D
M
I
E
R
A
I
I
L
V
Q
T
G
Q
E
A
L
E
-
-
-
-
P
A
A
Q
T
Q
A
A
P
Y
P
C
H
T
S
D
L
F
L
N
N
V
G
F
F
F
P
L
I
M
M
L
T
W
M
V
S
V
A
S
M
V
R
K
L
V
Y
E
Q
E
I
3597